Mutagenetix > Incidental Mutation

Incidental Mutation 'R5826:Cpd'

450186

Institutional Source

Beutler Lab

Gene Symbol

Cpd

Ensembl Gene

ENSMUSG00000020841

Gene Name

carboxypeptidase D

Synonyms

D830034L15Rik

MMRRC Submission

043217-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.922) question?

Stock #

R5826 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

76669250-76737844 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 76675242 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Stop codon at position 1293 (L1293*)

Ref Sequence

ENSEMBL: ENSMUSP00000021201 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021201]

AlphaFold

O89001

Predicted Effect

probably null
Transcript: ENSMUST00000021201
AA Change: L1293*

SMART Domains

Protein: ENSMUSP00000021201
Gene: ENSMUSG00000020841
AA Change: L1293*

Domain	Start	End	E-Value	Type
signal peptide	1	37	N/A	INTRINSIC
Zn_pept	62	471	1.71e-52	SMART
Zn_pept	502	900	2.11e-66	SMART
Zn_pept	930	1195	1.11e-42	SMART
Pfam:CarboxypepD_reg	1211	1284	3.6e-10	PFAM
transmembrane domain	1297	1319	N/A	INTRINSIC
low complexity region	1363	1371	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151584

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.5%
20x: 95.7%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The metallocarboxypeptidase family of enzymes is divided into 2 subfamilies based on sequence similarities. The pancreatic carboxypeptidase-like and the regulatory B-type carboxypeptidase subfamilies. Carboxypeptidase D has been identified as a regulatory B-type carboxypeptidase. CPD is a homolog of duck gp180, a hepatitis B virus-binding protein. Transcript variants utilizing alternative polyadenylation signals exist for this gene. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	A	G	11: 9,632,056 (GRCm39)	H4992R	probably damaging	Het
Acyp2	C	T	11: 30,456,354 (GRCm39)	E98K	possibly damaging	Het
Akr1c20	T	C	13: 4,560,222 (GRCm39)	E152G	probably damaging	Het
Ano4	T	A	10: 88,788,189 (GRCm39)	D877V	probably damaging	Het
Asb18	A	C	1: 89,942,260 (GRCm39)	S14A	probably damaging	Het
Atrnl1	T	A	19: 57,618,724 (GRCm39)	Y147*	probably null	Het
Cbfa2t2	A	G	2: 154,342,375 (GRCm39)	I30M	possibly damaging	Het
Csmd2	T	C	4: 128,412,992 (GRCm39)		probably null	Het
Cst9	G	A	2: 148,680,393 (GRCm39)	V120I	possibly damaging	Het
Ddah2	A	G	17: 35,279,664 (GRCm39)	D128G	probably damaging	Het
Defb11	T	C	8: 22,395,510 (GRCm39)	I56V	probably benign	Het
Dnah17	A	T	11: 117,925,193 (GRCm39)	L3880Q	probably damaging	Het
Dnah2	C	T	11: 69,349,746 (GRCm39)	R2399Q	probably benign	Het
Dop1a	A	G	9: 86,389,623 (GRCm39)	T508A	possibly damaging	Het
Ephb2	T	A	4: 136,388,048 (GRCm39)	H685L	probably damaging	Het
Glrb	T	C	3: 80,752,449 (GRCm39)	Y387C	probably damaging	Het
Gucy2e	A	G	11: 69,126,859 (GRCm39)	S205P	possibly damaging	Het
Has2	T	A	15: 56,531,498 (GRCm39)	I406F	probably damaging	Het
Hcrtr2	A	C	9: 76,230,569 (GRCm39)	V73G	probably benign	Het
Hsd17b4	A	T	18: 50,316,239 (GRCm39)	Q622L	probably benign	Het
Nlrp1b	A	T	11: 71,072,022 (GRCm39)	M607K	probably benign	Het
Nol6	T	A	4: 41,122,158 (GRCm39)	D184V	probably benign	Het
Noxa1	T	A	2: 24,976,253 (GRCm39)	Q345L	probably damaging	Het
Nudt6	T	C	3: 37,473,617 (GRCm39)	T35A	probably benign	Het
Phf8-ps	C	A	17: 33,284,288 (GRCm39)	R838I	possibly damaging	Het
Plcg2	T	C	8: 118,337,583 (GRCm39)	V985A	probably benign	Het
Plxnc1	C	T	10: 94,635,335 (GRCm39)		probably null	Het
Prkdc	G	A	16: 15,551,962 (GRCm39)	R2056H	probably benign	Het
Ptpn4	A	T	1: 119,612,246 (GRCm39)	I49N	probably benign	Het
Ralgapa1	T	G	12: 55,723,898 (GRCm39)	S1543R	probably damaging	Het
Rnf135	A	T	11: 80,089,912 (GRCm39)	N416I	probably damaging	Het
Scn5a	A	G	9: 119,350,399 (GRCm39)	L825P	probably damaging	Het
Septin11	A	T	5: 93,287,309 (GRCm39)	N8I	possibly damaging	Het
Slc13a3	T	C	2: 165,250,876 (GRCm39)	I456V	probably benign	Het
Slc16a3	A	G	11: 120,847,756 (GRCm39)	T315A	probably benign	Het
Sun1	T	G	5: 139,231,171 (GRCm39)	F657C	probably damaging	Het
Tmco3	T	C	8: 13,360,314 (GRCm39)	S34P	probably damaging	Het
Tnrc18	G	A	5: 142,759,502 (GRCm39)	P778L	unknown	Het
Ubxn4	A	C	1: 128,194,058 (GRCm39)	K284T	possibly damaging	Het
Usp37	A	T	1: 74,509,785 (GRCm39)	N461K	probably damaging	Het
Vmn2r106	A	T	17: 20,499,133 (GRCm39)	F259L	probably benign	Het
Vmn2r73	T	C	7: 85,524,956 (GRCm39)	D64G	possibly damaging	Het

Other mutations in Cpd

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00226:Cpd	APN	11	76,688,615 (GRCm39)	missense	probably benign	0.00
IGL00698:Cpd	APN	11	76,731,270 (GRCm39)	missense	possibly damaging	0.82
IGL01025:Cpd	APN	11	76,686,439 (GRCm39)	missense	probably damaging	1.00
IGL01292:Cpd	APN	11	76,737,071 (GRCm39)	missense	possibly damaging	0.80
IGL01571:Cpd	APN	11	76,673,122 (GRCm39)	missense	probably damaging	1.00
IGL01606:Cpd	APN	11	76,703,466 (GRCm39)	missense	probably benign
IGL02283:Cpd	APN	11	76,731,251 (GRCm39)	missense	probably benign	0.19
IGL02895:Cpd	APN	11	76,676,029 (GRCm39)	missense	probably benign	0.06
IGL02965:Cpd	APN	11	76,681,814 (GRCm39)	splice site	probably benign
IGL03116:Cpd	APN	11	76,702,539 (GRCm39)	missense	probably damaging	1.00
IGL03178:Cpd	APN	11	76,696,877 (GRCm39)	missense	probably benign	0.02
PIT4280001:Cpd	UTSW	11	76,681,850 (GRCm39)	missense	probably benign	0.23
PIT4382001:Cpd	UTSW	11	76,688,614 (GRCm39)	missense	probably benign
R0050:Cpd	UTSW	11	76,683,685 (GRCm39)	missense	possibly damaging	0.94
R0054:Cpd	UTSW	11	76,681,664 (GRCm39)	missense	probably damaging	1.00
R0054:Cpd	UTSW	11	76,681,664 (GRCm39)	missense	probably damaging	1.00
R0320:Cpd	UTSW	11	76,731,273 (GRCm39)	missense	possibly damaging	0.50
R0416:Cpd	UTSW	11	76,676,030 (GRCm39)	missense	probably benign	0.13
R0556:Cpd	UTSW	11	76,693,171 (GRCm39)	splice site	probably benign
R0666:Cpd	UTSW	11	76,673,153 (GRCm39)	missense	probably damaging	1.00
R0668:Cpd	UTSW	11	76,675,224 (GRCm39)	missense	probably damaging	1.00
R1180:Cpd	UTSW	11	76,692,579 (GRCm39)	missense	possibly damaging	0.56
R1472:Cpd	UTSW	11	76,675,224 (GRCm39)	missense	probably damaging	0.98
R1518:Cpd	UTSW	11	76,731,212 (GRCm39)	critical splice donor site	probably null
R1617:Cpd	UTSW	11	76,737,495 (GRCm39)	missense	probably damaging	1.00
R1786:Cpd	UTSW	11	76,683,624 (GRCm39)	missense	probably benign	0.00
R1854:Cpd	UTSW	11	76,677,164 (GRCm39)	missense	probably damaging	1.00
R1861:Cpd	UTSW	11	76,675,208 (GRCm39)	splice site	probably benign
R2159:Cpd	UTSW	11	76,688,467 (GRCm39)	missense	probably damaging	0.96
R2205:Cpd	UTSW	11	76,693,070 (GRCm39)	missense	probably damaging	0.99
R2281:Cpd	UTSW	11	76,688,627 (GRCm39)	missense	probably benign	0.00
R2680:Cpd	UTSW	11	76,681,825 (GRCm39)	missense	probably benign
R2928:Cpd	UTSW	11	76,737,200 (GRCm39)	missense	probably benign
R2937:Cpd	UTSW	11	76,702,685 (GRCm39)	missense	probably damaging	1.00
R4133:Cpd	UTSW	11	76,705,644 (GRCm39)	nonsense	probably null
R4241:Cpd	UTSW	11	76,737,611 (GRCm39)	missense	probably benign	0.03
R4369:Cpd	UTSW	11	76,688,537 (GRCm39)	missense	possibly damaging	0.82
R4538:Cpd	UTSW	11	76,681,825 (GRCm39)	missense	probably benign
R4551:Cpd	UTSW	11	76,702,712 (GRCm39)	missense	probably damaging	1.00
R4617:Cpd	UTSW	11	76,731,441 (GRCm39)	missense	probably damaging	1.00
R4732:Cpd	UTSW	11	76,702,620 (GRCm39)	missense	probably damaging	0.99
R4733:Cpd	UTSW	11	76,702,620 (GRCm39)	missense	probably damaging	0.99
R4821:Cpd	UTSW	11	76,737,063 (GRCm39)	missense	probably benign	0.38
R4852:Cpd	UTSW	11	76,675,976 (GRCm39)	missense	probably benign	0.32
R4901:Cpd	UTSW	11	76,681,707 (GRCm39)	missense	probably damaging	1.00
R4988:Cpd	UTSW	11	76,705,656 (GRCm39)	missense	probably damaging	0.98
R4999:Cpd	UTSW	11	76,737,048 (GRCm39)	critical splice donor site	probably null
R5005:Cpd	UTSW	11	76,704,396 (GRCm39)	missense	probably damaging	1.00
R5092:Cpd	UTSW	11	76,702,530 (GRCm39)	missense	possibly damaging	0.75
R5438:Cpd	UTSW	11	76,682,792 (GRCm39)	missense	possibly damaging	0.65
R5524:Cpd	UTSW	11	76,688,727 (GRCm39)	nonsense	probably null
R5677:Cpd	UTSW	11	76,690,651 (GRCm39)	missense	probably benign
R6031:Cpd	UTSW	11	76,681,714 (GRCm39)	missense	probably benign	0.00
R6031:Cpd	UTSW	11	76,681,714 (GRCm39)	missense	probably benign	0.00
R6103:Cpd	UTSW	11	76,690,625 (GRCm39)	missense	probably benign	0.00
R6257:Cpd	UTSW	11	76,703,496 (GRCm39)	missense	probably benign	0.37
R6263:Cpd	UTSW	11	76,737,097 (GRCm39)	missense	probably benign	0.00
R6485:Cpd	UTSW	11	76,699,533 (GRCm39)	splice site	probably null
R6671:Cpd	UTSW	11	76,686,359 (GRCm39)	missense	probably damaging	1.00
R6995:Cpd	UTSW	11	76,675,881 (GRCm39)	missense	probably benign	0.02
R7074:Cpd	UTSW	11	76,704,420 (GRCm39)	missense	probably damaging	1.00
R7192:Cpd	UTSW	11	76,705,667 (GRCm39)	missense	probably damaging	1.00
R7341:Cpd	UTSW	11	76,737,779 (GRCm39)	missense	unknown
R7371:Cpd	UTSW	11	76,737,437 (GRCm39)	missense	probably benign	0.25
R7380:Cpd	UTSW	11	76,693,151 (GRCm39)	nonsense	probably null
R7392:Cpd	UTSW	11	76,692,605 (GRCm39)	missense	probably damaging	1.00
R7410:Cpd	UTSW	11	76,673,134 (GRCm39)	missense	probably damaging	1.00
R7509:Cpd	UTSW	11	76,688,702 (GRCm39)	missense	probably benign	0.17
R7767:Cpd	UTSW	11	76,704,385 (GRCm39)	missense	probably benign	0.03
R8935:Cpd	UTSW	11	76,731,295 (GRCm39)	missense	probably damaging	1.00
R9151:Cpd	UTSW	11	76,675,275 (GRCm39)	missense	possibly damaging	0.54
R9172:Cpd	UTSW	11	76,675,252 (GRCm39)	missense	probably benign	0.21
R9173:Cpd	UTSW	11	76,699,649 (GRCm39)	missense	probably damaging	0.97
R9310:Cpd	UTSW	11	76,705,607 (GRCm39)	nonsense	probably null
R9666:Cpd	UTSW	11	76,693,133 (GRCm39)	missense	probably benign	0.02
Z1088:Cpd	UTSW	11	76,692,572 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CATATAGGACAACAGTAGCTTGGG -3'
(R):5'- GGCTTCAGTATCCTATAAGTGGC -3'

Sequencing Primer
(F):5'- GACAACAGTAGCTTGGGAAAATC -3'
(R):5'- TGTGTGTATGCTGGCAACCAAAC -3'

Posted On

2016-12-20